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Acta Médica Portuguesa
Article . 2025 . Peer-reviewed
License: CC BY NC
Data sources: Crossref
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https://doaj.org/article/71200...
Article . 2025
Data sources: DOAJ
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Síndrome hereditária hiperferritinemia-catarata: caso clínico

Authors: Carolina Fernandes; Cláudia Diogo; Cristiana Malhó; Filipa Alçada; Sónia Campos;

Síndrome hereditária hiperferritinemia-catarata: caso clínico

Abstract

Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder that is characterized by high serum ferritin levels without iron overload and early-onset cataracts. The authors describe the case of a 26-year-old woman with hyperferritinemia (1153.3 ng/mL, reference range 11.0 - 306.8 ng/mL), with no other abnormalities in iron metabolism, associated with cataracts diagnosed at the age of three. The diagnosis was confirmed by genetic testing with detection of a heterozygous variant in the FTL gene (c.-168G>T). It is important to recognise hereditary hyperferritinemia-cataract syndrome to avoid unnecessary medical procedures.

Keywords

Adult, Medicine (General), R5-920, Iron Metabolism Disorders/congenital, R, Medicine, Humans, Female, Hyperferritinemia, Cataract/genetics, Iron Metabolism Disorders, Cataract

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
Published in a Diamond OA journal